法布瑞氏病中的中风和慢性肾脏病。
Stroke and Chronic Kidney Disease in Fabry Disease.
机构信息
Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California - Irvine Medical Center, USA.
University of California - Irvine Medical Center, 101 The City Drive South, Orange, CA 92868, USA.
出版信息
J Stroke Cerebrovasc Dis. 2021 Sep;30(9):105423. doi: 10.1016/j.jstrokecerebrovasdis.2020.105423. Epub 2020 Nov 5.
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated in Fabry disease, most severely the cardiac, kidney, and central nervous systems. In this brief review, we will focus on the kidney and central nervous system involvement.
法布瑞氏病是一种 X 连锁溶酶体贮积症，由 GLA 基因中的致病性变异引起，导致α-半乳糖苷酶 A（α-Gal A）缺乏。多种器官系统受到法布瑞氏病的影响，其中心脏、肾脏和中枢神经系统最为严重。在这篇简要综述中，我们将重点讨论肾脏和中枢神经系统的受累情况。
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